DISEASE: Amelia with pelvic and pulmonary hypoplasia syndrome
Entry
H03079 Disease
Name
Amelia with pelvic and pulmonary hypoplasia syndrome
Description
Amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is a rare autosomal recessive lethal embryonic syndrome. Affected fetuses display absent hindlimbs with pelvic and pulmonary hypoplasia. It has been reported that germline homozygous loss-of-function mutations in the T-box transcription factor 4 (TBX4) gene cause this syndrome. Studies in animal models have revealed the importance of TBX4 in hindlimb development.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H03079 Amelia with pelvic and pulmonary hypoplasia syndrome
Bermejo-Sanchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martinez-Frias ML
Title
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B
Title
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
